Varaico: Literature-Extracted Genetic Variants

Gene:UBE2D1
Variant:p.P17S

UBE2D1

149 papers

RefSeq Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes...

Pfam Domains

UQ_conaa 1–104UCSCUbiquitin-conjugating enzyme
UQ_conaa 5–142UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 D1

HGNC Alias Symbols

UbcH5A; UBCH5; UBC4/5; E2(17)KB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003338.5
p.P17S
c.49C>T
Surrounding Variants
1 paper
NM_003338.5
p.C21S
c.61T>A
1 paper
NM_003338.5
p.C21S
c.62G>C
2 papers
NM_003338.5
p.S22L
c.65C>T
1 paper
NM_003338.5
p.S11R
c.33T>A
1 paper
NM_003338.5
p.S22S
c.66A>G
1 paper
NM_003338.5
p.D28A
c.83A>C
1 paper
NM_003338.5
p.Q34K
c.100C>A
2 papers
NM_003338.5
p.T36N
c.107C>A
1 paper
NM_003338.5
p.I37V
c.109A>G
1 paper
NM_003338.5
p.I37T
c.110T>C
1 paper
NM_003338.5
p.P41H
c.122C>A
2 papers
NM_003338.5
p.A44T
c.130G>A
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